Genetic Testing in the Hands of the Consumer – The Genomics Revolution

Genetic Testing in the Hands of the Consumer

As little as a decade ago, the concept of having your DNA (your genome) sequenced as a matter of routine probably seemed far-fetched. Yet fast-forward a few years and extraordinary advances in DNA sequencing technology, increasing its speed and precision, and a significant reduction in cost, has opened the floodgates for direct-to-consumer personal DNA testing from the comfort of the home.

Gaining insight into one’s DNA code could satisfy a curiosity as to ancestral origins and provide a general overview of genetic traits, resolve paternity, or reduce concern over a life-time risk of certain diseases.

Marketed as a device to allow the customer to take control of their health, saliva or buccal swab tests can be purchased online from overseas-based commercial companies. The kits are simply posted out, and samples are collected and returned in the mail (U.S. Department of Health & Human Services 2016). Rather than the whole DNA code of each individual being ‘read’, certain genetic sequences are mapped which have previously been identified to contain regions related to disease susceptibility. This approach delivers the individual a DNA ‘snapshot’ identifying genetic variants that occur in the population and can be used to calculate the relative risk of future disease.

Empowered by Knowledge

The potential benefits of ‘self’ genetic testing include:

Personalised medicine
Genomic information can be harnessed by doctors to determine drug metabolism, therefore revealing patient sensitivity to a particular medicine and the likelihood of its efficacy, before a prescription is made.

Lifestyle changes
It is not just genes that predict our future health, but also the environment. Modulating behaviours in response to less desirable genetic outcomes that increase susceptibility to diseases, such as cardiovascular disease or lung cancer, could increase exercise and reduce smoking, respectively. Increasing perception of disease risk in combination with a prior knowledge of family history may strongly influence decision making around lifestyle choices; however, the relative impact of genetic testing over and above known family history is not clear.

Contribution to medical science
Consumer genetic testing companies are teaming up with pharmaceutical companies to use genetic data to inform medicine discovery programs. While this is undeniably fuelled by profit, the outcomes are broadly beneficial to medicine.

Too Much Information?

The potential pitfalls of ‘self’ genetic testing include:

Misinterpretation
Commercial genomic testing is not coupled with genetic counselling or follow-up as would occur in the clinic. The perceived impact of the genetic risk may differ greatly from reality. An undesirable result is not an absolute indication that the disease will develop or indeed its severity, and could place otherwise healthy people in a state of distress. The psychological impact is unknown and could lead to anxiety and stress, whether warranted or not.

Healthcare burden
An inability to interpret or a desire to follow-up results could increase the burden on healthcare and the potential for the ‘worried-well’ to seek professional advice.

Data privacy
On multiple levels, the concern over data security is well-justified.

Parents may choose to include their children in DNA assessment to trace family patterns; however, the ethical implications for unconsenting minors who have a ‘right-not-to-know’ is unwavering. Should an unexpected harmful mutation be identified, that child must bear that knowledge, which could affect not only their risk of a disease but also the possibility that their own children could inherit the faulty gene. Such considerations also extend to untested family members, such as siblings, who do not wish to obtain such information. This raises the ethical complication of whether a doctor has a clinical responsibility to inform that person or not.

Being in possession of our genetic information could have legal ramifications relating to the provision of genetic information to health insurers. The potential for misappropriation of this data to discriminate against an individual is a genuine concern.

Despite remarkable technological advances in our ability to examine our genes close-up, we are much further behind in regulating the use of this information and defusing the ethical minefield that self genomic testing introduces (National Health and Medical Research Council 2014). The medical and economic benefits of harnessing big genomic data are plain to see and will certainly be the future in the fight against disease. The conversation as to how an individual’s data is utilised for the good and how they are supported and protected is paramount.

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Kirsten Hogg PhD, MSc, BSc (Hons) conducted her PhD studies in reproductive biology in Edinburgh, UK studying endocrine and metabolic dysfunction in a model of polycystic ovary syndrome. Moving to Canada and then Australia, Kirsten has since built considerable research expertise in fetal and placental development, with a particular focus on the role of epigenetics in health and disease. She has had numerous research papers published in peer-reviewed science journals and is the sole author of an e-book, a molecular biology troubleshooting guide aimed at early career scientists. Kirsten is using her research background and passion for science to pursue her interests in scientific and medical writing.

Kirsten Hogg PhD, MSc, BSc (Hons) conducted her PhD studies in reproductive biology in Edinburgh, UK studying endocrine and metabolic dysfunction in a model of polycystic ovary syndrome. Moving to Canada and then Australia, Kirsten has since built considerable research expertise in fetal and placental development, with a particular focus on the role of epigenetics in health and disease. She has had numerous research papers published in peer-reviewed science journals and is the sole author of an e-book, a molecular biology troubleshooting guide aimed at early career scientists. Kirsten is using her research background and passion for science to pursue her interests in scientific and medical writing.

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